Department of Neurology, Neuromuscular Research Center, University Hospital and University of Tampere, Finland.
Division of Clinical Neurosciences, Turku University Hospital, and University of Turku, Turku, Finland.
J Neuromuscul Dis. 2019;6(1):143-146. doi: 10.3233/JND-180350.
TRIM63 mutations have been described as a potential cause for cardiac and skeletal myopathy in only one family so far. We describe a new patient carrying the same homozygous TRIM63 nonsense mutation c.739 C>T p.Q247X, that was originally reported in two members of a Spanish family manifesting cardiac hypertrophy. One of these original patients also had an additional heterozygous mutation in TRIM54 and a much more severe phenotype also involving skeletal muscles, and a digenic inheritance was therefore suggested. Our case report confirms the role of TRIM63 as a new cardiac myopathy gene, although it is unclear whether the homozygous p.Q247X mutation alone is sufficient to cause an additional skeletal myopathy.
TRIM63 突变已被描述为迄今为止导致心脏和骨骼肌肉病变的一个潜在原因，但仅在一个家族中发现。我们描述了一位新患者携带相同的纯合 TRIM63 无义突变 c.739 C>T p.Q247X，该突变最初在一个西班牙家族的两名成员中被报道，表现为心脏肥大。其中一名原患者还存在 TRIM54 的另一个杂合突变，以及更严重的骨骼肌肉表型，因此提示双基因遗传。我们的病例报告证实了 TRIM63 作为一种新的心脏肌肉病变基因的作用，尽管尚不清楚纯合 p.Q247X 突变是否足以导致额外的骨骼肌肉病变。
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